Seroatlas · Human Serome Atlas

SACM1L

Phosphatidylinositol-3-phosphatase SAC1

Also known as: KIAA0851, SAC1, SAC1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9NTJ5
Gene: SACM1L
Ensembl: ENSG00000211456
Chromosome: 3
Canonical length: 587 aa
Protein class: Enzymes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm,Golgi apparatus

OverviewNCBI Gene

This gene encodes an integral membrane protein, which is localized to the endoplasmic reticulum, and functions as a phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, and phosphatidylinositol 3,5-bisphosphate. Deletion of this gene in mouse results in preimplantation lethality. Other studies suggest that this gene is also involved in the organization of golgi membranes and mitotic spindles. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame, downstream translation termination codon via a stop codon readthrough mechanism.[provided by RefSeq, Dec 2017]

Canonical amino-acid sequenceUniProt

587 residues, UniProt reviewed canonical sequence.

>Q9NTJ5|SACM1L
     1  MATAAYEQLK LHITPEKFYV EACDDGADDV LTIDRVSTEV TLAVKKDVPP SAVTRPIFGI
    61  LGTIHLVAGN YLIVITKKIK VGEFFSHVVW KATDFDVLSY KKTMLHLTDI QLQDNKTFLA
   121  MLNHVLNVDG FYFSTTYDLT HTLQRLSNTS PEFQEMSLLE RADQRFVWNG HLLRELSAQP
   181  EVHRFALPVL HGFITMHSCS INGKYFDWIL ISRRSCFRAG VRYYVRGIDS EGHAANFVET
   241  EQIVHYNGSK ASFVQTRGSI PVFWSQRPNL KYKPLPQISK VANHMDGFQR HFDSQVIIYG
   301  KQVIINLINQ KGSEKPLEQT FATMVSSLGS GMMRYIAFDF HKECKNMRWD RLSILLDQVA
   361  EMQDELSYFL VDSAGQVVAN QEGVFRSNCM DCLDRTNVIQ SLLARRSLQA QLQRLGVLHV
   421  GQKLEEQDEF EKIYKNAWAD NANACAKQYA GTGALKTDFT RTGKRTHLGL IMDGWNSMIR
   481  YYKNNFSDGF RQDSIDLFLG NYSVDELESH SPLSVPRDWK FLALPIIMVV AFSMCIICLL
   541  MAGDTWTETL AYVLFWGVAS IGTFFIILYN GKDFVDAPRL VQKEKID

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SACM1L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 2
Mean surface accessibility (rSASA): 0.23
Highest tissue expression: 36 nTPM

Expression across tissuesHPA

Tissue

thyroid gland: 36 nTPM
kidney: 35 nTPM
parathyroid gland: 31 nTPM
liver: 26 nTPM
adrenal gland: 26 nTPM
thymus: 25 nTPM

Single-cell type

nk-cells: 146 nCPM
lactotrophs: 135 nCPM
neutrophil progenitors: 119 nCPM
thymocytes: 117 nCPM
t-cells: 105 nCPM
innate lymphoid cells: 104 nCPM

Immune cell

NK-cell: 56 nTPM
myeloid DC: 25 nTPM
MAIT T-cell: 24 nTPM
eosinophil: 24 nTPM
total PBMC: 24 nTPM
memory CD8 T-cell: 23 nTPM

Brain region

hypothalamus: 29 nTPM
white matter: 22 nTPM
cerebellum: 22 nTPM
medulla oblongata: 22 nTPM
thalamus: 21 nTPM
midbrain: 20 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.37
gnomAD pLI: 0.7
gnomAD missense Z: 1.99
DepMap mean gene effect: -1.38
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SACM1L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SACM1L as an antibody target. Whether an autoantibody or antibody against SACM1L could matter depends on whether native SACM1L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SACM1L is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SACM1L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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